GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 1151 - 1175 of 4621 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼
DOID:2908
  • Treacher Collins syndrome
  • Aliases:
    • Franceschetti syndrome
    • mandibulofacial dysostosis
Homo sapiens (human)
DOID:0060227
  • Adams-Oliver syndrome
  • Aliases:
    • Adams Oliver syndrome
Homo sapiens (human)
DOID:0060791
  • hypomyelinating leukodystrophy 9
  • Aliases:
    • HLD9
    • RARS-related autosomal recessive hypomyelinating leukodystrophy
Homo sapiens (human)
DOID:14256
  • adult-onset Still's disease
  • Aliases:
    • adult onset Still's disease
    • adult-onset Still disease
Homo sapiens (human)
DOID:4776
  • rapidly progressive glomerulonephritis
Homo sapiens (human)
DOID:705
  • Leber hereditary optic neuropathy
  • Aliases:
    • Leber's hereditary optic neuropathy
    • Leber's optic atrophy
Homo sapiens (human)
DOID:0111418
  • familial apolipoprotein C-II deficiency
  • Aliases:
    • C-II anapolipoproteinemia
    • familial APOC2 deficiency
    • familial apoC-II deficiency
    • hyperlipoproteinemia, type 1b
    • hyperlipoproteinemia, type Ib
Homo sapiens (human)
DOID:3186
  • adult oligodendroglioma
  • Aliases:
    • adult brain oligodendroglioma
    • grade II adult Oligodendroglial tumor
Homo sapiens (human)
DOID:6345
  • malignant melanocytic neoplasm of the peripheral nerve sheath
  • Aliases:
    • Melanotic malignant nerve sheath tumor
    • Melanotic malignant peripheral nerve sheath tumor
    • Melanotic malignant peripheral nerve sheath tumour
    • melanocytic MPNST
Homo sapiens (human)
DOID:0070029
  • ITM2B-related cerebral amyloid angiopathy 1
  • Aliases:
    • Cerebral Amyloid Angiopathy, British Type
    • FBD
    • Familial British Dementia
    • Presenile Dementia with Spastic Ataxia
Homo sapiens (human)
DOID:9478
  • postpartum depression
  • Aliases:
    • Maternity blues
    • postnatal depression
Homo sapiens (human)
DOID:14118
  • familial lipoprotein lipase deficiency
  • Aliases:
    • Fredrickson type I hyperlipoproteinemia
    • Fredrickson type I lipaemia
    • familial LPL deficiency
    • familial hyperlipoproteinemia type I
    • hypercholesterinaemic xanthomatosis
    • hyperchylomicronemia
    • mixed hyperglyceridemia
Homo sapiens (human)
DOID:0060412
  • chromosome 1q41-q42 deletion syndrome
  • Aliases:
    • 1q41-q42 microdeletion syndrome
    • 1q41q42 microdeletion syndrome
Homo sapiens (human)
DOID:0110733
  • neuronal ceroid lipofuscinosis 9
  • Aliases:
    • CLN9
Homo sapiens (human)
DOID:0080139
  • multiple congenital anomalies-hypotonia-seizures syndrome 2
  • Aliases:
    • developmental and epileptic encephalopathy 20
    • early infantile epileptic encephalopathy 20
    • glycosylphosphatidylinositol biosynthesis defect 4
Homo sapiens (human)
DOID:9588
  • encephalitis
Homo sapiens (human)
DOID:6457
  • Cowden syndrome
  • Aliases:
    • Cowden disease
    • Lhermitte-Duclos disease
    • dysplastic Gangliocytoma of Cerebellum
Homo sapiens (human)
DOID:14766
  • renal agenesis
  • Aliases:
    • hereditary renal aplasia
    • hereditary urogenital adysplasia
    • renal adysplasia
    • renal aplasia
Homo sapiens (human)
DOID:0090139
  • cortisone reductase deficiency
  • Aliases:
    • CORTRD
Homo sapiens (human)
DOID:0050985
  • spinocerebellar ataxia type 38
Homo sapiens (human)
DOID:5504
  • tanycytic ependymoma
Homo sapiens (human)
DOID:10493
  • adrenal cortical hypofunction
  • Aliases:
    • Adrenal Cortical Insufficiency
    • Corticoadrenal insufficiency
Homo sapiens (human)
DOID:0050775
  • schneckenbecken dysplasia
Homo sapiens (human)
DOID:7365
  • Kimura disease
  • Aliases:
    • Kimura's disease
Homo sapiens (human)
DOID:0110096
  • short-rib thoracic dysplasia 14 with polydactyly
  • Aliases:
    • SRTD14
Homo sapiens (human)

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Last updated: August 19, 2024